Risk of functional impairment in Facioscapulohumeral muscular dystrophy

Muscle Nerve. 2014 Apr;49(4):520-7. doi: 10.1002/mus.23949. Epub 2014 Feb 10.


Introduction: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies. Nevertheless, little is known about the risk of developing functional impairment. Here we determine the 6-year risk of functional impairment in FSHD.

Methods: A retrospective cohort of 313 genetically confirmed, clinically affected FSHD participants in a United States registry between January 2002 and June 2011. Our main outcome was wheelchair (WC) use.

Results: The 6-year risk of WC use was 24.0% (95% confidence interval 18.6-29.3). The distribution of WC risk was bimodal, with a peak in the second decade associated with large D4Z4 contractions, followed by an age-related increase in risk. Other functional categories showed moderate risk. Prevalence of hearing aid use and difficulty pronouncing words was increased in large D4Z4 contractions.

Conclusions: The 6-year risk of functional impairment in FSHD is moderate, and early WC use is associated with large D4Z4 contractions.

Keywords: D4Z4 contraction; Facioscapulohumeral dystrophy; Functional impairment; Muscular dystrophy; Neuromuscular disorders.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Cohort Studies
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscular Dystrophy, Facioscapulohumeral / diagnosis*
  • Muscular Dystrophy, Facioscapulohumeral / epidemiology
  • Muscular Dystrophy, Facioscapulohumeral / physiopathology*
  • Registries
  • Retrospective Studies
  • Risk Factors
  • Surveys and Questionnaires
  • Wheelchairs / statistics & numerical data